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Leukodystrophies
Blaise V. Jones, MD
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KEY FACTS

  • Terminology

    • Imaging

      TERMINOLOGY

      • Definitions

        • Heritable disorders primarily impacting structure & function of white matter (WM) in CNS
      • Classification

        • Multiple classification schemes have been proposed
          • Based on clinical phenotype, imaging phenotype, pathologic phenotype, &/or cellular organelle affected
        • Recent classification is based upon component of WM impacted
          • Myelin & oligodendrocytes
            • Metachromatic leukodystrophy (MLD), X-linked adrenoleukodystrophy (ALD), Canavan disease
          • Astrocytes
            • Alexander disease (AD), megalencephalic leukodystrophy with subcortical cysts (MLC), vanishing WM (VWM), globoid cell leukodystrophy (GLD, Krabbe disease)
          • Neurons & axons
            • POLR3-related leukodystrophies, hypomyelination with atrophy of basal ganglia & cerebellum (H-ABC)
          • Microglia
            • CSF1R-related disorders

      IMAGING

      • General Features

        • CT Findings

          • MR Findings

            • Imaging Recommendations

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  • Staging, Grading, & Classification

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              Selected References

                              1. Mallack EJ et al: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines. J Inherit Metab Dis. 44(3):728-39, 2021
                              2. Yazbeck E et al: Progressive leukodystrophy-like demyelinating syndromes with MOG-antibodies in children: a rare under-recognized phenotype. Neuropediatrics. 52(4):337-40, 2021
                              3. Perrier S et al: Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 6(3):e425, 2020
                              4. Soderholm HE et al: Elevated leukodystrophy incidence predicted from genomics databases. Pediatr Neurol. 111:66-9, 2020
                              5. van der Knaap MS et al: Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 18(10):962-72, 2019
                              6. van der Knaap MS et al: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 134(3):351-82, 2017
                              7. van der Knaap MS et al: Leukodystrophies: five new things. Neurol Clin Pract. 6(6):506-14, 2016
                              8. Vanderver A et al: Leukodystrophy overview, 2014
                              9. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
                              10. Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
                              11. Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
                              12. i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
                              13. van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
                              14. Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
                              15. Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
                              16. Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
                              17. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                              18. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  TERMINOLOGY

                                  • Definitions

                                    • Heritable disorders primarily impacting structure & function of white matter (WM) in CNS
                                  • Classification

                                    • Multiple classification schemes have been proposed
                                      • Based on clinical phenotype, imaging phenotype, pathologic phenotype, &/or cellular organelle affected
                                    • Recent classification is based upon component of WM impacted
                                      • Myelin & oligodendrocytes
                                        • Metachromatic leukodystrophy (MLD), X-linked adrenoleukodystrophy (ALD), Canavan disease
                                      • Astrocytes
                                        • Alexander disease (AD), megalencephalic leukodystrophy with subcortical cysts (MLC), vanishing WM (VWM), globoid cell leukodystrophy (GLD, Krabbe disease)
                                      • Neurons & axons
                                        • POLR3-related leukodystrophies, hypomyelination with atrophy of basal ganglia & cerebellum (H-ABC)
                                      • Microglia
                                        • CSF1R-related disorders

                                  IMAGING

                                  • General Features

                                    • CT Findings

                                      • MR Findings

                                        • Imaging Recommendations

                                          DIFFERENTIAL DIAGNOSIS

                                            PATHOLOGY

                                            • General Features

                                              • Staging, Grading, & Classification

                                                CLINICAL ISSUES

                                                • Presentation

                                                  • Demographics

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Image Interpretation Pearls

                                                          Selected References

                                                          1. Mallack EJ et al: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines. J Inherit Metab Dis. 44(3):728-39, 2021
                                                          2. Yazbeck E et al: Progressive leukodystrophy-like demyelinating syndromes with MOG-antibodies in children: a rare under-recognized phenotype. Neuropediatrics. 52(4):337-40, 2021
                                                          3. Perrier S et al: Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 6(3):e425, 2020
                                                          4. Soderholm HE et al: Elevated leukodystrophy incidence predicted from genomics databases. Pediatr Neurol. 111:66-9, 2020
                                                          5. van der Knaap MS et al: Diagnosis, prognosis, and treatment of leukodystrophies. Lancet Neurol. 18(10):962-72, 2019
                                                          6. van der Knaap MS et al: Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol. 134(3):351-82, 2017
                                                          7. van der Knaap MS et al: Leukodystrophies: five new things. Neurol Clin Pract. 6(6):506-14, 2016
                                                          8. Vanderver A et al: Leukodystrophy overview, 2014
                                                          9. van der Knaap MS et al: Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. 11(11):973-85, 2012
                                                          10. Bugiani M et al: Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 70(1):69-82, 2011
                                                          11. Bonkowsky JL et al: The burden of inherited leukodystrophies in children. Neurology. 75(8):718-25, 2010
                                                          12. i Dali C et al: Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy. Neurology. 75(21):1896-903, 2010
                                                          13. van der Knaap MS et al: Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol. 67(6):834-7, 2010
                                                          14. Duffner PK et al: The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 11(6):450-4, 2009
                                                          15. Wu Y et al: Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease. J Hum Genet. 54(2):74-7, 2009
                                                          16. Gorospe JR et al: Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. Ment Retard Dev Disabil Res Rev. 12(2):113-22, 2006
                                                          17. Brockmann K et al: Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol. 250(3):300-6, 2003
                                                          18. Brockmann K et al: Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. 60(5):819-25, 2003